Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

氯乙酰苯胺除草剂及其降解产物在肯尼亚Nzoia流域的演变

采用气相色谱法对肯尼亚沿Nzoia河9个地点的水样和沉积物样中草不绿(也称杂草锁)(α'-氯-N-(2,6-二乙基苯基)-N-(甲氧基甲基)乙酰胺)、甲氧毒草安(α-氯6'-乙基-N-(2甲氧基-1-甲基乙基)乙酰邻甲苯胺)及它们各自环境稳定的苯胺类降解物2,6-二乙基苯胺、2-乙基-6-甲基苯胺进行分析.降解物在90%以上的沉积物样和水样中检出,而母体化合物只在不到14%的水样中检出.沉积物中的杀虫剂和它们的降解物比在水中浓度高很多(1.4～10 800倍),显示出化合物在沉积物中的积累.在研究时间内沉积物中降解物的普遍存在意味着这些化合物的持续性.可以假定在热带气候为主的条件下,促使杀虫剂快速分解为环境稳定的降解物,从而在研究区域内使后者成为比其母体更重要的污染物.     

First-trimester prenatal diagnosis of Sanfilippo C disease

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: α-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.     

Protozoan colonization on artificial substrates in relation to water quality in a tropical Indian harbour.

A field study was conducted to evaluate the protozoan colonization patterns on artificial substrates in relation to organic pollution within a tropical harbour. The composition of protozoans and their succession rates on artificial substrates(polyurethane foam units) were compared between two field stations(A and B), and their presence were considered with regards to the prevailing water quality conditions at the study sites. Altogether 44 genera of flagellates and ciliates were documented. The common genera of flagellates encountered included Monas, Polytoma, and Chromalina. Among the ciliates, the predominant genera were Tetrahymena, Vorticella, Lagymophyra, and Heloiphyra. These groups exhibited characteristic successional patterns in relation to ambient water quality. At Station A, located close to the sewage outfall, the water quality parameters included poor Secchi-disc transparency(0.48 m), dissolved oxygen of 1.93 mg/ml, salinity of 18 psu, and temperature 31.3 degrees C. Here, the nanoflagellates (spumella) colonized first, followed by microcilliate(Tetrahymena) and sessile form(Vorticella). Station B, located on the seaward side, was characterized by relatively less-stressed environmental conditions with transparency 1.85 m and dissolved oxygen value of 6.04 mg/ml. Salinity of 27.27 psu, and mean temperature of 30 degrees C were recorded at "B". At this station, the nanoflagellate Polytoma was first documented to colonize on the substrates, followed by microcilliate(Lagynophrya) and suctorid(Heliophyra). These findings support the use of protozoans as indicator species for evaluating the hazards posed by organic pollution to natural estuarine communities.     

Evaluation of the biodegradability of copolyesters containing aromatic compounds by investigations of model oligomers

Model oligo esters of terephthalic acid with 1,2-ethanediol, 1,3-propanediol, and 1,4-butanediol have been investigated with regard to their biodegradability in different biological environments. Well-characterized oligomers with weight-average molar masses of from 600 to 2600 g/mol exhibit biodegradation in aqueous systems, soil, and compost at 60°C. SEC investigations showed a fast biological degradation of the oligomer fraction consisting of 1 or 2 repeating units, independent of the diol component used for polycondensation, while polyester oligomers with degrees of polymerization higher than 2 were stable against microbial attack at room temperature in a time frame of 2 months. At 60°C in a compost environment chemical hydrolysis also degrades chains longer than two repeating units, resulting in enhanced degradability of the oligomers. Metabolization of the monomers and the dimers as well by the microorganisms could be confirmed by comparing SEC measurements and carbon balances in a Sturm test experiment. Based on these results degradation characteristics of potential oligomer intermediates resulting from a primary chain scission from copolyesters consisting of aromatic and aliphatic dicarbonic acids can be predicted depending on their composition. These results will have an evident influence on the evaluation of the biodegradability of commercially interesting copolyesters and lead to new ways of tailor-made designing of new biodegradable materials as well.     

Vertical gradients of ozone and carbon dioxide within a deciduous forest in Central Pennsylvania

Ambient concentrations of ozone (O(3)) and carbon dioxide (CO(2)) were measured at locations from the forest floor to the top of the canopy in a deciduous forest at the Moshannon State Forest in northcentral Pennsylvania. O(3) concentrations were measured from May-September for three years (1993-1995) while CO(2) concentrations were measured only during July and August of 1994. O(3) concentrations increased steadily during the day at all locations, peaking during the middle to late afternoon hours. O(3) concentrations then steadily declined to their lowest point, just before dawn. Vertical O(3) concentration gradients varied seasonally and among years. However, O(3) concentrations were highest within the forest canopy and lowest at the forest floor, with an average difference of approximately 13%. Differences in O(3) concentrations between the canopy and forest floor were greatest at night. O(3) concentrations were slightly higher at locations within the canopy than above the canopy. CO(2) concentrations were consistenly higher near the forest floor and were higher above the canopy than within the canopy. CO(2) concentrations were higher at night than during the day at all locations, especially near the forest floor.     

Long-term trends and sources of organochlorine contamination in Canadian tundra Peregrine Falcons, Falco peregrinus tundrius

Levels of eggshell thinning, and organochlorine residues in egg contents, blood plasma of adults and juveniles, tissue samples, and prey species were determined for a population of migratory Peregrine Falcons (Falco peregrinus tundrius) breeding in the Canadian Arctic. Temporal trends were assessed by comparing data collected during 1991-1994, with data from 1982-1986, for the same population. Shells (n=54) from 1991-1994 averaged 15% thinner than eggs produced prior to the introduction of DDT. No improvement in shell thickness was detected between decades. Mean DDE residue levels in eggs showed a decline from 7.6 mg kg (1982-1986) to 4.5 mg kg (1991-1994), but there was no significant change in SigmaPCB residues. Moreover, the proportion of clutches with eggs exceeding critical SigmaPCB, DDE, and dieldrin residue levels (10%) did not change between decades. Relative to Greenland and Alaskan populations, F. p. tundrius at Rankin Inlet show high levels of organochlorine contamination and little reduction in residues over the last decade. These Tundra Peregrines continue to be exposed to organochlorines in Latin America; however, results also link relatively high levels in the study population with waterfowl species that do not leave Canada in winter.